Q9Y6M7
PR
Gene name |
SLC4A7 (BT, NBC2, NBC2B, NBC3, NBCn1, SBC2, SLC4A6) |
Protein name |
Sodium bicarbonate cotransporter 3 |
Names |
Electroneutral Na/HCO(3) cotransporter, Sodium bicarbonate cotransporter 2, Sodium bicarbonate cotransporter 2b, Bicarbonate transporter, Solute carrier family 4 member 7 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9497 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q9Y6M7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9Y6M7-F1 | Predicted | AlphaFoldDB |
840 variants for Q9Y6M7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA351921699 rs1335269777 |
3 | R>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA2292388 rs774541785 |
4 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs144006432 COSM730382 CA2292387 |
5 | R>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2292386 rs372621060 |
5 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA351921673 rs372621060 |
5 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA351921642 rs1287751513 |
8 | K>R | No |
ClinGen TOPMed |
|
|
rs1322488285 CA351921595 |
11 | P>L | No |
ClinGen TOPMed |
|
|
rs368878071 CA71721417 |
11 | P>S | No |
ClinGen ESP TOPMed |
|
|
rs200701789 CA2292362 |
12 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200701789 CA2292363 |
12 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2292361 rs371846527 |
13 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 14 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745452532 CA2292359 |
15 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771500092 CA2292360 |
15 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA351920766 rs1372432658 |
16 | E>* | No |
ClinGen TOPMed |
|
| TCGA novel | 17 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2292358 rs778812311 |
17 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1226653383 CA351920697 |
21 | L>F | No |
ClinGen gnomAD |
|
|
CA351920668 rs1364415977 |
23 | K>R | No |
ClinGen gnomAD |
|
|
rs777585684 CA2292355 |
24 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs755886354 CA2292354 |
24 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs974272100 CA71719695 |
25 | S>G | No |
ClinGen gnomAD |
|
|
rs1168945890 CA351920641 |
25 | S>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 25 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351920620 rs1365694199 |
27 | T>N | No |
ClinGen gnomAD |
|
|
rs1163519794 CA351920613 |
28 | V>M | No |
ClinGen gnomAD |
|
|
CA351920586 rs1435040063 |
30 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs758537804 CA2292351 |
31 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 35 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351920328 rs1490367572 |
42 | A>V | No |
ClinGen TOPMed |
|
|
CA2292324 rs775886465 |
44 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs190577402 CA351920299 |
45 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs190577402 CA2292323 |
45 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA71717814 rs199846605 |
47 | V>I | No |
ClinGen Ensembl |
|
|
rs759151503 CA2292322 |
48 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759151503 CA351920268 |
48 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA71717812 rs147114451 |
48 | H>Y | No |
ClinGen ESP |
|
|
CA2292320 rs770371932 |
49 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA2292317 rs769667643 |
52 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA2292316 rs747941290 |
52 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351920235 rs1559797297 |
53 | K>R | No |
ClinGen Ensembl |
|
|
CA351920228 rs1576537319 |
54 | E>A | No |
ClinGen Ensembl |
|
|
CA351920224 rs1420765641 |
54 | E>D | No |
ClinGen gnomAD |
|
|
rs1163157837 CA351920230 |
54 | E>K | No |
ClinGen TOPMed |
|
|
CA2292315 rs781094576 |
56 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs768592781 CA2292314 |
56 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1406778931 CA351920210 |
57 | R>Q | No |
ClinGen TOPMed |
|
|
CA2292313 rs746026207 |
57 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs757351887 CA2292311 |
58 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2292310 rs148308402 |
58 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs191471316 CA2292309 |
59 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2292308 rs756621553 |
60 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2292307 rs574452437 |
60 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs756621553 CA351920193 |
60 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2292306 rs376495110 |
62 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA71717724 rs376495110 |
62 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA351920182 rs1234953013 |
62 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs751146403 CA2292304 |
63 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2292303 rs766014546 |
64 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs893973789 CA351920155 |
66 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
rs762501494 CA2292302 |
66 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs893973789 CA71717720 |
66 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs374233349 CA71717712 |
67 | H>Y | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA2292299 rs149158126 |
69 | R>Q | No |
ClinGen ESP gnomAD |
|
|
CA2292301 rs369578431 |
69 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA351920106 rs1576536562 |
73 | D>E | No |
ClinGen Ensembl |
|
|
CA351920108 rs1183225991 |
73 | D>V | No |
ClinGen TOPMed |
|
|
CA351920104 rs1417951105 |
74 | K>E | No |
ClinGen gnomAD |
|
|
rs776719264 CA2292296 |
74 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 75 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351920087 rs1576536451 |
76 | S>L | No |
ClinGen Ensembl |
|
|
rs1559796698 CA351920089 |
76 | S>P | No |
ClinGen Ensembl |
|
|
CA351920080 rs1184470616 |
77 | D>G | No |
ClinGen gnomAD |
|
|
CA351920079 rs1184470616 |
77 | D>V | No |
ClinGen gnomAD |
|
|
CA2292295 rs146516405 |
78 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs987409879 CA71717668 |
79 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA351920058 rs1486397395 |
80 | D>G | No |
ClinGen gnomAD |
|
|
CA351920060 rs1188714598 |
80 | D>Y | No |
ClinGen gnomAD |
|
|
CA2292293 rs142072563 |
82 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2292294 rs35182302 |
82 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1339094580 CA351920041 |
83 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs781657624 CA2292267 |
88 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs749359163 CA2292291 |
88 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA351919244 rs1200262482 |
89 | T>I | No |
ClinGen TOPMed |
|
|
rs1481616095 CA351919242 |
90 | P>A | No |
ClinGen gnomAD |
|
|
rs776515617 CA351919228 |
92 | Q>P | No |
ClinGen gnomAD |
|
|
CA71712388 rs776515617 |
92 | Q>R | No |
ClinGen gnomAD |
|
|
CA2292265 rs747543199 CA71712385 |
95 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781407951 CA71712387 |
95 | Q>P | No |
ClinGen Ensembl |
|
|
CA351919182 rs1413082556 |
99 | G>D | No |
ClinGen TOPMed |
|
|
rs780232526 CA2292264 |
102 | D>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 103 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA71712380 rs990695383 |
104 | D>G | No |
ClinGen Ensembl |
|
|
CA351919136 rs1457970552 |
105 | E>D | No |
ClinGen gnomAD |
|
|
CA351919131 rs1457443361 |
106 | E>G | No |
ClinGen TOPMed |
|
|
CA351919124 rs1257011424 |
107 | H>R | No |
ClinGen gnomAD |
|
|
rs758802893 CA2292263 |
108 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1290261684 CA351919118 |
108 | I>V | No |
ClinGen TOPMed |
|
|
CA71712376 rs866572630 |
110 | H>R | No |
ClinGen Ensembl |
|
|
rs1275384945 CA351919099 |
111 | D>H | No |
ClinGen gnomAD |
|
|
COSM1043468 rs1275384945 CA351919098 |
111 | D>Y | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA2292261 rs765002018 |
112 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3696024 CA2292259 rs753444993 COSM3696025 |
114 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA351919068 rs1347356071 |
115 | E>* | No |
ClinGen TOPMed |
|
| TCGA novel | 118 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1399915945 CA351918828 |
118 | E>K | No |
ClinGen gnomAD |
|
|
CA351918804 rs1407236967 |
121 | Y>C | No |
ClinGen gnomAD |
|
|
CA2292256 rs529422304 |
121 | Y>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA351918800 rs1172536020 |
122 | R>G | No |
ClinGen gnomAD |
|
|
CA351918798 rs1477348883 |
122 | R>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1477348883 CA351918797 |
122 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA351918788 rs1366032582 |
123 | D>V | No |
ClinGen gnomAD |
|
| TCGA novel | 128 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351918744 rs1237186842 |
129 | W>* | No |
ClinGen gnomAD |
|
|
CA351918739 rs1196308082 |
129 | W>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs200958413 CA2292254 |
130 | K>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1279024065 CA351918719 |
132 | T>S | No |
ClinGen gnomAD |
|
| TCGA novel | 145 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351918610 rs1359157569 |
146 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1162211263 CA351918539 |
156 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1292243284 CA351918511 |
160 | H>R | No |
ClinGen Ensembl |
|
| TCGA novel | 162 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1559762851 CA351918499 |
162 | L>V | No |
ClinGen Ensembl |
|
| TCGA novel | 165 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2292225 rs751421129 |
168 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs1283692093 CA351918442 |
170 | L>V | No |
ClinGen TOPMed |
|
|
CA351918432 rs1226856471 |
171 | N>K | No |
ClinGen TOPMed |
|
|
CA2292224 rs765415751 |
171 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2292221 rs768654615 |
175 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1559762683 CA351918402 |
175 | M>V | No |
ClinGen Ensembl |
|
|
rs760871899 CA2292220 |
177 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 179 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2292219 rs775842812 |
183 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2292218 rs769665534 |
186 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs961787676 CA71711877 |
186 | I>T | No |
ClinGen Ensembl |
|
|
CA2292191 rs200680213 |
188 | D>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2292192 rs200680213 |
188 | D>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA71710367 rs950803130 |
189 | M>I | No |
ClinGen TOPMed |
|
|
CA2292190 rs377606974 |
189 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2292188 rs769535887 |
192 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA351917952 rs747582148 |
193 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2292187 rs747582148 |
193 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351917950 rs1389881787 |
193 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA351917932 rs1419107279 |
195 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1312179582 CA351917937 |
195 | I>V | No |
ClinGen gnomAD |
|
|
rs377651626 CA2292182 |
201 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377651626 CA2292183 |
201 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1043465 rs374072016 CA2292180 |
202 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2292178 rs140940751 |
204 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2292177 rs767579258 |
205 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351917862 rs1421606166 CA351917861 |
206 | E>D | No |
ClinGen gnomAD |
|
|
CA351917860 rs1380946506 |
207 | N>D | No |
ClinGen gnomAD |
|
|
rs1178293423 CA351917848 |
208 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 210 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA71710256 rs777113299 |
210 | E>A | No |
ClinGen Ensembl |
|
|
CA351917826 rs1258513221 |
212 | L>I | No |
ClinGen gnomAD |
|
|
rs763389021 CA2292173 |
213 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA351917798 rs1179930476 |
216 | H>R | No |
ClinGen TOPMed |
|
|
rs773753726 CA2292172 |
216 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA2292171 rs770088340 |
217 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs747777003 CA2292170 |
220 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA351917708 rs1351132048 |
222 | K>R | No |
ClinGen gnomAD |
|
|
rs776151352 CA2292169 |
224 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs200000052 CA2292168 |
225 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1369961138 CA351917660 |
226 | S>G | No |
ClinGen TOPMed |
|
|
COSM1043464 CA2292166 rs779940746 |
227 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs267599763 CA2292162 |
232 | R>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2292161 rs752900768 |
232 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2292160 rs767702435 |
237 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA351917521 rs1370422111 |
237 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1423615643 CA351917493 |
239 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 243 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA71710138 rs1020594612 |
244 | P>L | No |
ClinGen Ensembl |
|
|
CA2292159 rs755076186 |
244 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1263090071 CA351917412 |
245 | H>P | No |
ClinGen gnomAD |
|
|
rs1484571885 CA351917378 |
250 | N>D | No |
ClinGen gnomAD |
|
|
rs755858613 CA71710136 |
250 | N>S | No |
ClinGen Ensembl |
|
|
rs754190971 CA2292135 |
251 | G>A | No |
ClinGen ExAC TOPMed |
|
|
CA2292133 rs73824931 |
252 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs947201280 CA71708792 |
252 | E>K | No |
ClinGen Ensembl |
|
|
rs760269292 CA2292132 |
253 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1380040877 CA351917270 |
255 | S>L | No |
ClinGen TOPMed |
|
|
CA2292131 rs775134094 |
255 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA351917264 rs1559751263 |
256 | A>G | No |
ClinGen Ensembl |
|
|
rs545171853 CA2292128 |
256 | A>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs79985873 CA2292125 |
257 | S>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2292124 COSM378365 rs369043562 |
258 | R>C | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs145640462 CA2292123 |
258 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs747172202 CA2292120 |
259 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs769734927 CA2292121 |
259 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351917241 rs1279312169 |
261 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA2292119 rs780489497 |
261 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA351917240 rs1279312169 |
261 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2292117 rs758537710 |
262 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs139463553 COSM1043462 CA2292115 |
262 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs146334046 CA2292114 |
263 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1387532051 CA351917225 |
264 | G>C | No |
ClinGen gnomAD |
|
|
rs757660919 CA2292113 |
265 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351917201 rs1430861341 |
268 | S>* | No |
ClinGen TOPMed |
|
| TCGA novel | 269 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1311774079 CA351917189 |
270 | L>H | No |
ClinGen gnomAD |
|
|
CA2292111 rs764382323 |
270 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs761034104 CA2292110 |
271 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351917175 rs1394963854 |
272 | L>F | No |
ClinGen TOPMed |
|
|
rs752345283 CA2292109 |
274 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351917158 rs1175856738 |
275 | E>G | No |
ClinGen TOPMed |
|
|
rs1416512599 CA351917161 |
275 | E>Q | No |
ClinGen gnomAD |
|
|
rs374589535 CA351917147 |
277 | P>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA71708667 rs893277611 |
277 | P>R | No |
ClinGen TOPMed |
|
|
rs374589535 CA2292106 |
277 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2292105 rs770509792 |
280 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773216830 CA2292102 |
284 | H>R | No |
ClinGen ExAC |
|
|
rs149562429 CA2292101 |
285 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2292100 rs748011867 |
285 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs748011867 CA351917099 |
285 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1237171796 CA351917097 |
286 | L>F | No |
ClinGen gnomAD |
|
|
CA351917094 rs780397694 |
286 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780397694 CA2292099 |
286 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1559750605 CA351917087 |
287 | P>L | No |
ClinGen Ensembl |
|
|
rs772459349 COSM1537669 CA2292097 |
290 | R>G | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs897110281 CA71708633 |
290 | R>S | No |
ClinGen TOPMed |
|
|
rs746132270 CA2292096 |
292 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs778808544 CA2292095 |
293 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA351917054 rs1305356800 |
293 | T>N | No |
ClinGen TOPMed |
|
|
rs757370423 CA2292094 |
296 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs749688841 CA2292093 |
297 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 298 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1353336702 CA351917026 |
298 | R>S | No |
ClinGen gnomAD |
|
|
rs984254694 CA71708614 |
299 | C>R | No |
ClinGen Ensembl |
|
|
rs1277930784 CA351917022 |
299 | C>Y | No |
ClinGen gnomAD |
|
|
CA2292092 rs533741971 |
300 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs374685577 CA2292090 |
301 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374685577 CA2292091 |
301 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA351917004 rs1025726312 |
302 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA71708596 rs1025726312 |
302 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs577668904 CA2292088 |
303 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs916416250 CA71708592 |
304 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA351916998 rs916416250 |
304 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1323299183 CA351916983 |
306 | P>L | No |
ClinGen TOPMed |
|
|
CA2292087 rs751251142 |
306 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765751075 CA2292086 |
307 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA351916964 rs1156390607 |
309 | S>N | No |
ClinGen gnomAD |
|
|
rs762531963 CA2292085 |
311 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1212212168 CA2292083 |
312 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs143347053 CA71708586 CA351916937 |
313 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 313 | S>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351916929 rs1320438515 |
315 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA71708580 rs761665133 |
315 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA2292081 rs765311056 |
315 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA351916924 rs1307980354 |
316 | I>V | No |
ClinGen TOPMed |
|
|
rs537526606 CA2292079 |
318 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2292078 rs568739204 |
318 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA351916896 rs1576420964 |
320 | T>S | No |
ClinGen Ensembl |
|
|
CA351916898 rs1282444497 |
320 | T>S | No |
ClinGen gnomAD |
|
|
CA2292077 rs746018551 |
323 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA351916870 rs1231827257 |
324 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA351916869 rs1231827257 |
324 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs3755652 CA2292075 VAR_055317 |
326 | E>K | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1216069208 CA351916839 |
328 | Q>H | No |
ClinGen TOPMed |
|
|
CA351916837 rs1400095887 |
329 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs139578211 CA2292074 |
329 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA351916834 rs139578211 |
329 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2292073 rs778231652 |
332 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA71708533 rs966354097 |
333 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs756654553 CA2292072 |
334 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA351916787 rs1559749737 |
337 | S>L | No |
ClinGen Ensembl |
|
|
rs755386782 CA2292069 |
337 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA2292067 rs766111192 |
338 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA2292065 rs749990523 |
339 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs764867366 CA2292064 |
339 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA351916776 rs1289423758 |
340 | S>G | No |
ClinGen gnomAD |
|
|
rs1212214200 CA351916770 |
340 | S>R | No |
ClinGen gnomAD |
|
|
CA351916765 rs1320380823 |
341 | D>G | No |
ClinGen gnomAD |
|
|
CA2292063 rs187555718 |
342 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA351916760 COSM1172977 rs1279413781 |
342 | D>N | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA2292062 rs187555718 |
342 | D>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA351916742 rs1360454701 |
345 | T>P | No |
ClinGen gnomAD |
|
|
rs1437974424 CA351916712 |
349 | H>R | No |
ClinGen gnomAD |
|
|
CA71708456 rs1043196317 |
350 | P>A | No |
ClinGen Ensembl |
|
|
CA2292060 rs760582815 |
350 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351916707 rs760582815 |
350 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 351 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351916670 rs1375886970 |
355 | L>F | No |
ClinGen TOPMed |
|
|
CA2292058 rs149030403 |
356 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1335569646 CA351916659 |
357 | A>S | No |
ClinGen TOPMed |
|
|
CA351916652 rs201856043 |
358 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1271505796 CA351916654 |
358 | A>S | No |
ClinGen TOPMed |
|
|
CA2292056 rs201856043 |
358 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747447062 COSM1422263 CA2292052 |
359 | L>P | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs747447062 CA2292051 |
359 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA351916647 rs1459395116 |
360 | K>Q | No |
ClinGen gnomAD |
|
|
CA2292050 rs779539155 |
360 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1200719845 CA351916638 |
361 | G>C | No |
ClinGen gnomAD |
|
|
rs750119241 CA2292048 |
362 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA351916634 rs1281346664 |
362 | E>K | No |
ClinGen gnomAD |
|
|
CA2292047 rs145052230 |
363 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756831006 CA2292046 |
364 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 364 | Q>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351916617 rs1438306103 |
364 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 365 | K>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2292045 rs527733380 |
365 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1172674110 CA351916584 |
368 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1417364375 CA351916571 |
370 | V>A | No |
ClinGen TOPMed |
|
| TCGA novel | 372 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 372 | L>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351916542 rs1409296195 |
374 | P>L | No |
ClinGen TOPMed |
|
|
CA351926318 rs1417733296 |
375 | G>D | No |
ClinGen gnomAD |
|
|
rs753449326 CA2292025 |
378 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147800417 CA2292022 |
380 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2292023 rs756039830 |
380 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351926281 rs1219957067 |
381 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2292021 rs767289094 |
382 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs145734846 COSM107023 CA71750927 |
383 | A>V | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs529601097 CA2292019 |
384 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs759335145 CA2292020 |
384 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1214584961 CA351926260 |
385 | G>A | No |
ClinGen gnomAD |
|
|
rs1314670354 CA351926250 |
387 | L>M | No |
ClinGen gnomAD |
|
|
rs765504090 CA2292018 |
388 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1354820432 CA351926236 |
389 | N>D | No |
ClinGen gnomAD |
|
|
CA351926227 rs1291293268 |
390 | S>G | No |
ClinGen gnomAD |
|
|
rs776729802 CA2292016 |
391 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA2292017 rs761847512 |
391 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2292014 rs560666731 |
394 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA351926200 rs1451954143 |
394 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1166012166 CA351926187 |
395 | I>M | No |
ClinGen gnomAD |
|
|
CA351926164 rs1475046474 |
398 | N>T | No |
ClinGen gnomAD |
|
|
CA351926160 rs1347226452 |
399 | G>R | No |
ClinGen gnomAD |
|
|
rs1301587576 CA351926155 |
399 | G>V | No |
ClinGen gnomAD |
|
|
CA351926148 COSM1265972 rs1416350975 |
400 | S>N | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1478535445 CA351926143 |
401 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 402 | G>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2292012 rs142027495 |
403 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2292011 rs772560780 |
404 | R>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 405 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746291192 CA2292010 |
407 | S>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 409 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351926071 rs1214105392 |
409 | V>G | No |
ClinGen gnomAD |
|
|
rs774127075 CA2292009 |
409 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA2292008 rs373728073 |
411 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 414 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351925830 rs1326450754 |
415 | D>G | No |
ClinGen TOPMed |
|
|
CA351925836 rs1187080306 |
415 | D>H | No |
ClinGen gnomAD |
|
|
CA351925808 rs1207491021 |
416 | M>I | No |
ClinGen TOPMed |
|
|
rs937442498 CA71750407 |
416 | M>R | No |
ClinGen gnomAD |
|
|
rs937442498 CA351925812 |
416 | M>T | No |
ClinGen gnomAD |
|
|
CA351925782 rs1265482132 |
418 | F>L | No |
ClinGen gnomAD |
|
|
rs1182766081 CA351925750 |
420 | R>K | No |
ClinGen gnomAD |
|
|
CA71750404 rs868671813 |
423 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs776068418 CA2291967 |
424 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA351925669 rs1212015802 |
426 | A>P | No |
ClinGen gnomAD |
|
|
rs182343432 CA2291963 |
430 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2291961 rs373397184 |
431 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1559722353 CA351925549 |
435 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs752991875 CA2291959 |
437 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA2291960 rs756251589 |
437 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA2291958 rs781364321 |
438 | F>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 442 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767055523 CA2291955 |
443 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA351925395 rs1213877388 |
444 | I>T | No |
ClinGen gnomAD |
|
|
rs1159874073 CA351925389 |
445 | A>T | No |
ClinGen TOPMed |
|
|
CA2291954 rs763357290 |
445 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA351925326 rs1456821679 |
449 | L>V | No |
ClinGen TOPMed |
|
|
CA2291952 rs765654152 |
450 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA2291951 rs150162507 |
450 | A>V | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs1293354663 CA351925305 |
451 | P>S | No |
ClinGen TOPMed |
|
|
rs776265900 CA2291950 |
452 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA2291949 rs768146978 |
455 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs147645679 CA351925225 |
458 | L>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA351925164 rs760234882 |
462 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA2291948 rs760234882 |
462 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA351925119 rs1284825853 |
466 | R>K | No |
ClinGen TOPMed |
|
| TCGA novel | 466 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376336583 CA2291931 |
471 | L>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2291930 rs760144778 |
471 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA2291929 rs189574936 |
473 | G>S | No |
ClinGen 1000Genomes ExAC |
|
|
rs1478215565 CA351925017 |
474 | P>S | No |
ClinGen gnomAD |
|
|
CA2291928 rs767078395 |
475 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1298503164 CA351924994 |
478 | A>T | No |
ClinGen gnomAD |
|
|
CA2291926 rs774350114 |
478 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752608162 CA2291925 |
479 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752608162 CA351924989 |
479 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 480 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 481 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1314917482 CA351924976 |
481 | Y>N | No |
ClinGen gnomAD |
|
|
rs536485637 CA2291924 |
482 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1043796296 CA71750125 |
484 | I>V | No |
ClinGen Ensembl |
|
|
CA71750122 COSM184392 rs988107424 |
486 | R>* | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA351924932 rs1576348894 |
487 | S>* | No |
ClinGen Ensembl |
|
| TCGA novel | 487 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351924930 rs370132387 |
488 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2291922 rs370132387 |
488 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2291921 rs747269874 |
490 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs758507833 CA2291919 |
491 | L>I | No |
ClinGen ExAC |
|
|
rs759154034 CA2291907 |
496 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2291905 rs766391596 |
500 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351924835 rs766391596 |
500 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2291902 rs376321311 |
505 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA71749554 rs769722179 |
506 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2291901 rs769722179 |
506 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351924793 rs769722179 |
506 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 507 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1288454686 CA351924766 |
510 | L>V | No |
ClinGen gnomAD |
|
|
CA351924760 rs1351727561 |
511 | L>V | No |
ClinGen Ensembl |
|
| TCGA novel | 524 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 526 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 528 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351924643 rs1262021718 |
528 | E>G | No |
ClinGen gnomAD |
|
|
rs1185533169 CA351924601 |
534 | R>C | No |
ClinGen gnomAD |
|
|
CA351924590 rs1463245897 |
536 | E>K | No |
ClinGen gnomAD |
|
|
rs749817178 CA2291894 |
539 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749817178 CA351924567 |
539 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351924501 rs1234049399 |
546 | K>R | No |
ClinGen gnomAD |
|
|
CA351924475 rs1369184997 |
550 | P>A | No |
ClinGen gnomAD |
|
|
rs1240960604 CA351924463 |
552 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA2291868 rs370056312 |
554 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA351924439 rs1396394849 |
555 | G>E | No |
ClinGen gnomAD |
|
|
CA2291867 rs770132652 CA351924441 |
555 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1434915489 CA351924425 |
557 | T>I | No |
ClinGen gnomAD |
|
|
CA2291866 rs201689692 |
558 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA71748016 rs1025130590 |
559 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 559 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2291863 rs751196756 |
560 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA2291864 rs754623380 |
560 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs150040978 CA2291862 |
561 | G>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA71748011 rs989398070 |
562 | E>K | No |
ClinGen TOPMed |
|
|
CA2291861 rs140822700 |
563 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs750370741 CA2291860 |
563 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA351924391 rs1203127412 |
564 | P>L | No |
ClinGen gnomAD |
|
|
rs554297620 CA2291859 |
564 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2291858 rs761480574 |
567 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs534429205 CA351924368 |
568 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs534429205 CA2291856 |
568 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs774561522 CA2291854 |
569 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs770993461 CA2291853 |
570 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs770993461 CA351924354 |
570 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs768293108 CA71747998 |
571 | A>V | No |
ClinGen Ensembl |
|
|
rs1559696445 CA351924334 |
573 | P>L | No |
ClinGen Ensembl |
|
|
rs571790970 CA2291850 |
574 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs551809922 CA2291848 |
576 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2291847 rs369230749 |
578 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA351924294 rs1363179108 |
580 | R>Q | No |
ClinGen gnomAD |
|
|
rs779906681 CA2291845 |
580 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA2291828 rs367941096 |
581 | L>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA351924010 rs1462959196 |
581 | L>V | No |
ClinGen gnomAD |
|
|
CA351924001 rs1177601127 |
582 | F>S | No |
ClinGen TOPMed |
|
|
rs1409847059 CA351923984 |
585 | L>V | No |
ClinGen TOPMed |
|
|
rs1164383927 CA351923967 |
587 | L>P | No |
ClinGen gnomAD |
|
|
rs1054419589 CA71747522 |
590 | K>R | No |
ClinGen Ensembl |
|
|
CA71747521 rs1039985042 |
591 | R>K | No |
ClinGen Ensembl |
|
|
rs1244101672 CA351923932 |
592 | K>R | No |
ClinGen gnomAD |
|
|
CA2291826 rs375197811 |
593 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778508905 CA2291825 |
596 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA2291824 rs756724253 |
598 | S>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 599 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 601 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351923848 rs1271390760 |
604 | L>S | No |
ClinGen gnomAD |
|
|
rs1463084357 CA351923824 |
607 | Q>H | No |
ClinGen TOPMed |
|
|
rs777630012 CA2291822 |
611 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2291820 rs752529515 |
619 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA2291819 rs767334911 |
619 | C>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 621 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2291818 rs758572914 |
634 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA2291816 rs765298130 |
636 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1576248163 CA351923464 COSM1495515 |
639 | S>N | kidney [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1311702594 CA351923456 |
640 | A>V | No |
ClinGen Ensembl |
|
|
CA2291802 rs370980563 |
641 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370980563 CA2291801 |
641 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs999761563 CA71746368 |
645 | F>S | No |
ClinGen Ensembl |
|
|
CA351923410 rs1333380707 |
648 | S>P | No |
ClinGen TOPMed |
|
| TCGA novel | 649 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779049742 CA2291799 |
650 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA2291798 rs757325605 |
654 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs764254777 CA2291796 |
655 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA71746348 rs74972191 |
660 | Q>H | No |
ClinGen Ensembl |
|
|
CA2291795 rs761205046 |
663 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs888134478 CA71746330 |
670 | P>L | No |
ClinGen TOPMed |
|
|
CA2291792 rs767989946 |
671 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA351923256 rs1382297846 |
673 | V>M | No |
ClinGen TOPMed |
|
|
rs760037191 CA2291791 |
674 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 675 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 676 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2291790 rs774033728 |
677 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA71746317 rs1024617026 |
678 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA2291788 rs768280411 |
679 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2291789 rs770531688 |
679 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs772550440 CA2291787 |
680 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA71746304 rs746443567 |
683 | R>G | No |
ClinGen gnomAD |
|
|
rs1358730779 CA351923184 |
683 | R>I | No |
ClinGen gnomAD |
|
|
CA2291765 rs776515598 |
683 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA351923159 rs1279036057 |
685 | Y>C | No |
ClinGen gnomAD |
|
|
rs1433336446 CA351923145 |
687 | L>F | No |
ClinGen gnomAD |
|
|
rs768537897 CA2291764 |
689 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1348819239 CA351923118 |
691 | S>F | No |
ClinGen gnomAD |
|
|
CA351923102 rs1450907461 |
694 | T>A | No |
ClinGen TOPMed |
|
|
rs1559675022 CA351923097 |
695 | S>C | No |
ClinGen Ensembl |
|
| TCGA novel | 700 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1390398077 CA351923062 |
700 | T>P | No |
ClinGen gnomAD |
|
|
rs1254857341 CA351923031 |
704 | C>F | No |
ClinGen gnomAD |
|
|
rs749465995 COSM356131 CA2291760 |
704 | C>R | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1254857341 CA351923032 |
704 | C>S | No |
ClinGen gnomAD |
|
|
CA351923027 rs1210388233 |
705 | I>V | No |
ClinGen gnomAD |
|
|
rs1488086660 CA351923017 |
706 | V>A | No |
ClinGen gnomAD |
|
|
rs1488086660 CA351923016 |
706 | V>G | No |
ClinGen gnomAD |
|
|
CA2291759 rs778198394 |
710 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1317388119 CA351922975 |
713 | S>G | No |
ClinGen TOPMed |
|
|
rs1297117044 CA351922963 |
714 | S>R | No |
ClinGen gnomAD |
|
|
CA351922933 rs1260227462 |
719 | I>V | No |
ClinGen TOPMed |
|
|
CA351922902 rs1321738092 |
723 | T>I | No |
ClinGen TOPMed |
|
|
CA71745419 rs756539527 |
729 | A>T | No |
ClinGen Ensembl |
|
|
rs1183552952 CA351922828 |
734 | I>T | No |
ClinGen TOPMed |
|
|
CA71745408 rs977347425 |
735 | F>L | No |
ClinGen Ensembl |
|
| TCGA novel | 735 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351922812 rs1559674487 |
736 | I>M | No |
ClinGen Ensembl |
|
|
rs752122278 CA2291752 |
737 | Y>C | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 738 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351922800 rs1170854792 |
738 | E>G | No |
ClinGen TOPMed |
|
|
rs1167534632 CA351922804 |
738 | E>K | No |
ClinGen gnomAD |
|
|
rs758868151 CA2291750 |
739 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1396683066 CA351922784 |
741 | E>K | No |
ClinGen gnomAD |
|
|
rs1199227742 CA351922776 |
742 | K>E | No |
ClinGen gnomAD |
|
|
rs1199227742 CA351922774 |
742 | K>Q | No |
ClinGen gnomAD |
|
|
rs1432525374 CA351922758 |
744 | F>S | No |
ClinGen gnomAD |
|
|
rs866496188 CA71745393 |
745 | D>N | No |
ClinGen Ensembl |
|
| TCGA novel | 747 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1305545028 CA351922732 |
748 | E>K | No |
ClinGen gnomAD |
|
|
CA351922716 rs1467955138 |
750 | Y>C | No |
ClinGen TOPMed |
|
|
CA2291748 rs369445403 |
754 | M>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2291749 rs142901157 |
754 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1450739806 CA351922681 |
755 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA2291747 rs146877414 |
756 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2291744 rs200043461 |
756 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs75615379 CA2291746 |
756 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA351922667 rs1232982173 |
757 | N>T | No |
ClinGen gnomAD |
|
|
rs1256959051 CA351922668 |
757 | N>Y | No |
ClinGen gnomAD |
|
|
CA2291743 rs373616244 |
758 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA351922630 rs1309760445 |
762 | T>I | No |
ClinGen gnomAD |
|
|
rs1576233904 CA351922616 |
764 | Y>F | No |
ClinGen Ensembl |
|
|
CA2291742 rs771750085 |
765 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs753490720 CA2291727 |
767 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1285883778 CA351922576 |
768 | C>F | No |
ClinGen TOPMed |
|
|
rs1399828257 CA351922564 |
770 | E>G | No |
ClinGen gnomAD |
|
|
CA351922566 rs1395052724 |
770 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA351922537 rs1470174490 |
774 | P>S | No |
ClinGen TOPMed |
|
|
CA2291725 rs760290162 |
776 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775266483 CA2291724 |
779 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1411144285 COSM1753149 CA351922504 COSM1753148 |
779 | L>V | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA2291723 rs767530400 |
781 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA2291721 rs774240208 |
785 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774240208 CA351922459 |
785 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1264309803 CA351922446 |
787 | I>K | No |
ClinGen gnomAD |
|
|
CA2291720 rs762063371 |
787 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351922445 rs1264309803 |
787 | I>T | No |
ClinGen gnomAD |
|
|
rs762063371 CA2291719 |
787 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2291718 rs777063030 |
788 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs1576217132 CA351922428 |
790 | H>R | No |
ClinGen Ensembl |
|
|
CA2291717 rs377535382 |
790 | H>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs200933810 CA2291716 |
791 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1559667561 CA351922405 |
793 | S>F | No |
ClinGen Ensembl |
|
| TCGA novel | 793 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772578003 CA2291714 |
794 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1284228455 CA351922385 |
796 | N>S | No |
ClinGen gnomAD |
|
|
CA2291713 rs201738916 |
797 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA351922377 rs1299636815 |
797 | L>R | No |
ClinGen gnomAD |
|
|
rs982865573 CA71742862 |
802 | C>Y | No |
ClinGen TOPMed |
|
|
CA2291688 rs778021507 |
803 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA2291687 rs755751161 |
805 | L>F | No |
ClinGen ExAC gnomAD |
|
|
COSM2949171 COSM2949170 CA2291686 rs142923476 |
806 | R>C | Variant assessed as Somatic; 9.355e-05 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2291685 rs780693194 |
806 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351922306 rs780693194 |
806 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1027930401 CA71742834 |
808 | V>A | No |
ClinGen TOPMed |
|
|
CA2291683 rs751536196 |
817 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA351922226 rs1340948361 |
818 | G>V | No |
ClinGen gnomAD |
|
|
rs143008404 CA2291681 |
819 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1220730241 CA351922219 |
820 | Y>H | No |
ClinGen gnomAD |
|
|
CA351922187 rs1434163624 |
824 | V>G | No |
ClinGen gnomAD |
|
|
CA2291679 rs149034907 |
824 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760896483 CA2291678 |
825 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs775634378 CA2291677 |
829 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs374900487 CA2291676 |
830 | I>F | No |
ClinGen ESP ExAC TOPMed |
|
|
rs759654065 CA2291675 |
830 | I>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 830 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1425133530 CA351922145 |
831 | L>V | No |
ClinGen gnomAD |
|
|
rs771379394 CA2291673 |
834 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA2291672 rs145395117 |
835 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA351922107 rs1482560536 |
836 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs556838747 CA2291671 |
836 | F>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA351922089 rs1249140038 |
839 | S>C | No |
ClinGen gnomAD |
|
|
rs770065935 CA2291670 |
840 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA351922076 rs1442753558 |
841 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 844 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1053200459 CA71742777 |
845 | F>L | No |
ClinGen TOPMed |
|
|
CA71742770 rs959213482 |
848 | K>R | No |
ClinGen TOPMed |
|
|
rs754504206 CA71742763 |
849 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs746562983 CA2291666 |
849 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754504206 CA2291667 |
849 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA2291665 rs186230162 |
850 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA351922019 rs1471801843 |
850 | Y>H | No |
ClinGen TOPMed |
|
|
rs758348941 CA2291664 |
851 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA351921995 rs1413285254 |
854 | K>Q | No |
ClinGen TOPMed |
|
|
CA351921968 rs1288946567 |
856 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 856 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351921957 rs1456072249 |
857 | S>L | No |
ClinGen gnomAD |
|
|
rs745815530 CA351921950 |
859 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2291646 rs745815530 |
859 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351921939 rs1559658759 |
860 | S>N | No |
ClinGen Ensembl |
|
|
CA2291644 rs757054418 |
866 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs368563562 CA2291643 |
868 | I>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA351921881 rs1451066665 |
869 | V>L | No |
ClinGen gnomAD |
|
|
rs374475354 CA2291642 |
870 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371559654 CA2291641 |
871 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751792985 CA2291640 |
872 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs766431279 CA2291639 |
873 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2291638 rs763007882 |
874 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1226711398 CA351921833 |
876 | Y>F | No |
ClinGen gnomAD |
|
|
rs750909232 CA2291637 |
877 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351921826 rs1266726328 |
877 | L>R | No |
ClinGen TOPMed |
|
|
rs1559658420 CA351921799 |
882 | S>A | No |
ClinGen Ensembl |
|
|
CA2291636 rs765709966 |
884 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs777091658 CA2291635 |
886 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769160758 CA2291633 |
886 | H>R | No |
ClinGen ExAC |
|
|
CA2291634 rs777091658 |
886 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 890 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 891 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1297254594 CA351921729 |
892 | E>D | No |
ClinGen gnomAD |
|
|
rs761164199 CA2291615 |
893 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs761164199 CA2291616 |
893 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs368144082 CA2291614 |
894 | T>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs146857770 CA2291613 |
895 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM40858 CA2291611 rs773668521 |
896 | P>L | large_intestine central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs114662202 CA2291612 |
896 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA351921583 rs1483540120 |
901 | I>V | No |
ClinGen gnomAD |
|
|
rs1251337414 CA351921575 |
902 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1194479882 CA351921565 |
903 | S>N | No |
ClinGen gnomAD |
|
|
CA2291608 rs777752390 |
906 | G>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1221694036 CA351921540 |
907 | D>V | No |
ClinGen TOPMed |
|
|
CA351921533 rs1256908447 |
908 | N>S | No |
ClinGen gnomAD |
|
|
CA351921524 rs1440075094 |
909 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1233178325 CA351921501 |
912 | T>N | No |
ClinGen gnomAD |
|
|
rs1321947544 CA351921494 |
913 | L>F | No |
ClinGen gnomAD |
|
|
COSM1422256 CA351921468 rs1284890658 |
917 | A>V | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA2291607 rs535493807 |
918 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2291606 rs747982552 |
919 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA2291603 rs746104271 |
923 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs778849270 CA2291602 |
925 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1267310280 CA351921416 |
926 | L>V | No |
ClinGen TOPMed |
|
|
CA2291601 rs757429583 |
927 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351921366 rs754367561 |
932 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 932 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351921348 rs1468716448 |
935 | A>V | No |
ClinGen TOPMed |
|
|
CA351921345 rs1161529001 |
936 | V>I | No |
ClinGen gnomAD |
|
|
rs1411279646 CA351921331 |
938 | I>V | No |
ClinGen gnomAD |
|
|
CA2291598 rs372599708 |
939 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2291597 rs753071527 |
941 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1160251593 CA351921291 |
943 | H>L | No |
ClinGen TOPMed |
|
|
CA351921290 rs1257303534 |
943 | H>Q | No |
ClinGen gnomAD |
|
|
CA351921286 rs1200236788 |
944 | K>* | No |
ClinGen gnomAD |
|
|
CA2291580 rs756622567 |
948 | G>R | No |
ClinGen ExAC |
|
|
CA351921238 rs1435736572 |
949 | A>S | No |
ClinGen gnomAD |
|
|
CA351921224 rs1316384602 |
951 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs753271540 CA2291578 |
952 | H>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 955 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1165899506 CA351921190 |
956 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1328083366 CA351921189 |
956 | L>H | No |
ClinGen gnomAD |
|
| TCGA novel | 957 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 958 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs545807896 CA2291575 |
960 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs545807896 CA2291574 |
960 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1007487208 CA71741055 |
961 | M>I | No |
ClinGen Ensembl |
|
|
CA2291573 rs772666324 |
961 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2291572 rs772666324 |
961 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1463296302 CA351921159 |
961 | M>V | No |
ClinGen Ensembl |
|
|
rs1169546327 CA351921142 |
964 | V>I | No |
ClinGen gnomAD |
|
|
CA351921097 rs1198635554 |
970 | L>H | No |
ClinGen TOPMed |
|
|
CA2291570 rs577061142 |
971 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs776701187 CA2291569 |
976 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA351921030 rs768309779 |
981 | I>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 981 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768309779 CA2291568 |
981 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA351921010 rs746873840 |
983 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs775173775 CA2291566 |
984 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA2291565 rs557069319 |
985 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 988 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1438466695 CA351920958 |
991 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
CA2291563 rs777943663 |
991 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA351920959 rs1438466695 |
991 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA2291562 rs770056458 |
992 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs781741335 CA2291560 |
995 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 996 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2291559 rs755275171 |
998 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1409720498 CA351920903 |
999 | Q>H | No |
ClinGen gnomAD |
|
|
CA2291558 rs751899856 |
1000 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA351920896 rs1370031614 |
1001 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 1002 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1003 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2291554 rs375605357 |
1006 | R>C | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2291555 rs375605357 |
1006 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2291553 rs763407279 COSM184382 |
1006 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs543284509 CA2291552 |
1007 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1489751950 CA351920849 |
1008 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1489751950 CA351920850 |
1008 | Q>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1009 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1253493777 CA351920842 |
1009 | R>W | No |
ClinGen gnomAD |
|
| TCGA novel | 1010 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760563019 CA2291550 |
1013 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351920817 rs1396920024 |
1013 | L>P | No |
ClinGen TOPMed |
|
|
rs1338996011 CA351920785 COSM1043446 |
1014 | M>I | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA351920792 rs1270562398 |
1014 | M>T | No |
ClinGen gnomAD |
|
|
rs1279412233 CA351920692 |
1022 | S>P | No |
ClinGen TOPMed |
|
|
CA71740984 rs892044828 |
1024 | F>V | No |
ClinGen Ensembl |
|
|
CA71740981 rs1052753260 |
1027 | S>L | No |
ClinGen gnomAD |
|
|
rs1004936682 CA71727074 |
1031 | F>C | No |
ClinGen Ensembl |
|
|
rs1382746006 CA351920487 |
1032 | I>F | No |
ClinGen gnomAD |
|
|
CA351920479 rs1335350561 |
1033 | P>A | No |
ClinGen gnomAD |
|
|
rs1335350561 CA351920478 |
1033 | P>S | No |
ClinGen gnomAD |
|
|
CA71727072 rs955050835 |
1034 | M>I | No |
ClinGen gnomAD |
|
|
CA351920463 rs1159111391 |
1035 | P>R | No |
ClinGen gnomAD |
|
|
rs560987151 CA71727068 |
1035 | P>T | No |
ClinGen gnomAD |
|
|
CA2291529 rs556819975 |
1036 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 1037 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371954465 CA2291527 |
1039 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA71727050 rs924675941 |
1040 | V>I | No |
ClinGen TOPMed |
|
|
rs761969100 CA2291526 |
1046 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1030531487 CA71727026 |
1047 | S>A | No |
ClinGen Ensembl |
|
|
rs996733083 CA71727006 |
1047 | S>Y | No |
ClinGen Ensembl |
|
|
CA71727002 rs977472650 |
1053 | Q>* | No |
ClinGen TOPMed |
|
|
rs1290126117 CA351919969 |
1055 | F>C | No |
ClinGen gnomAD |
|
|
rs772531613 CA2291501 |
1057 | R>C | No |
ClinGen ExAC gnomAD |
|
|
COSM1495517 COSM2949142 CA351919952 rs1295540039 |
1057 | R>H | kidney Variant assessed as Somatic; 0.0 impact. central_nervous_system [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1322699098 CA351919949 |
1058 | I>L | No |
ClinGen TOPMed |
|
|
CA2291500 rs756185029 |
1061 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA71725654 rs756185029 |
1061 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351919920 rs1359272787 |
1062 | G>E | No |
ClinGen gnomAD |
|
|
CA2291499 rs774641287 |
1065 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA351919868 rs1405254360 |
1069 | P>L | No |
ClinGen gnomAD |
|
|
CA2291498 rs191899197 |
1071 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs868853519 CA71725626 |
1071 | L>S | No |
ClinGen Ensembl |
|
|
rs951233938 CA71725605 |
1073 | Y>H | No |
ClinGen Ensembl |
|
|
rs1188827703 CA351919838 |
1074 | L>F | No |
ClinGen gnomAD |
|
|
rs529446183 CA2291496 |
1075 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM3696019 CA2291495 rs560270432 COSM294827 |
1075 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs867681676 CA71725543 |
1078 | P>S | No |
ClinGen Ensembl |
|
|
CA351919778 rs963818634 |
1083 | H>L | No |
ClinGen gnomAD |
|
|
rs963818634 CA71725512 |
1083 | H>R | No |
ClinGen gnomAD |
|
|
rs1427355139 CA351919766 |
1085 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2291493 rs139643738 |
1089 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1355783095 CA351919723 |
1091 | T>I | No |
ClinGen TOPMed |
|
|
rs1064080 CA351919716 |
1092 | C>W | No |
ClinGen gnomAD |
|
|
CA351919671 rs1207788133 |
1099 | I>L | No |
ClinGen gnomAD |
|
|
rs754892706 CA2291492 |
1100 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1100 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351919658 rs1576133972 |
1101 | V>I | No |
ClinGen Ensembl |
|
|
CA71725490 rs911459505 |
1103 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1218170267 CA351919608 |
1109 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs751552673 CA2291491 |
1111 | M>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1111 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1389438836 | 1112 | V>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA71722421 rs1015184499 |
1114 | A>V | No |
ClinGen Ensembl |
|
|
rs142812818 CA2291468 |
1116 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142812818 CA71722386 |
1116 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA351919535 rs1404010493 |
1118 | V>A | No |
ClinGen gnomAD |
|
|
CA351919531 COSM285110 rs1161458423 |
1119 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA2291467 rs750147099 |
1119 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA71722353 rs1029975514 |
1120 | K>R | No |
ClinGen Ensembl |
|
| TCGA novel | 1120 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752975077 CA2291464 |
1122 | M>I | No |
ClinGen ExAC gnomAD |
|
|
COSM1186218 CA351919515 rs1341358664 |
1122 | M>V | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1244080105 CA351919507 |
1123 | D>N | No |
ClinGen gnomAD |
|
|
rs767580317 CA2291463 |
1127 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1206367412 CA351919468 |
1128 | K>N | No |
ClinGen gnomAD |
|
|
rs752083073 CA2291461 |
1128 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1129 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1131 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1351006035 CA351919395 |
1138 | M>R | No |
ClinGen gnomAD |
|
|
CA71722325 rs1053909248 |
1139 | P>S | No |
ClinGen gnomAD |
|
|
CA71722321 rs201832393 |
1141 | S>R | No |
ClinGen gnomAD |
|
|
CA351919364 rs1197909313 |
1142 | K>N | No |
ClinGen TOPMed |
|
|
CA351919325 rs763547331 |
1147 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351919331 rs1481325089 |
1147 | D>N | No |
ClinGen TOPMed |
|
|
CA2291458 rs773382006 |
1148 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1451910793 CA351919323 |
1148 | D>N | No |
ClinGen gnomAD |
|
|
CA2291456 rs761540173 |
1149 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761540173 CA2291457 |
1149 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA71722288 rs929470061 |
1150 | K>R | No |
ClinGen TOPMed |
|
|
CA71722276 rs774501005 |
1153 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA71720560 rs922685148 |
1156 | E>K | No |
ClinGen TOPMed |
|
|
rs774809809 CA2291432 |
1157 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2291430 rs745790112 |
1159 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1043329669 CA351919039 COSM1226464 |
1159 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA71720514 rs947315258 |
1160 | M>T | No |
ClinGen Ensembl |
|
|
CA2291429 rs774312832 |
1161 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs988128803 CA71720507 |
1164 | D>N | No |
ClinGen gnomAD |
|
|
CA2291427 rs749035172 |
1165 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA2291426 rs145087546 |
1166 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2291425 rs755125774 |
1167 | T>A | No |
ClinGen ExAC TOPMed |
|
|
rs1213470169 CA351918951 |
1172 | F>S | No |
ClinGen gnomAD |
|
|
CA71720457 rs370729937 |
1173 | E>D | No |
ClinGen ESP gnomAD |
|
|
rs984462365 CA71720461 |
1173 | E>Q | No |
ClinGen TOPMed |
|
|
CA2291422 rs758567416 |
1174 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA2291420 rs368963217 |
1175 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs1184284793 | 1175 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2291421 rs368963217 |
1175 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2291419 rs757872985 |
1176 | S>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1176 | S>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748751979 CA2291418 |
1177 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA71720418 rs1023798749 |
1179 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs140478567 CA2291417 |
1182 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2291415 rs775280053 |
1184 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA71720370 rs1033954245 |
1185 | L>P | No |
ClinGen TOPMed |
|
|
rs149192782 CA2291414 |
1185 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773875703 CA2291412 |
1186 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1188 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200897110 CA2291381 |
1189 | P>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200897110 CA2291380 |
1189 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA351917759 rs1178477991 |
1190 | D>E | No |
ClinGen TOPMed |
|
| TCGA novel | 1193 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA71715215 rs983761700 |
1193 | V>E | No |
ClinGen Ensembl |
|
|
CA2291379 rs540360960 |
1193 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA71715210 rs190875654 |
1194 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA351917712 rs1284831377 |
1194 | S>T | No |
ClinGen gnomAD |
|
|
CA351917673 rs1344646085 |
1197 | I>L | No |
ClinGen gnomAD |
|
|
CA351917674 rs1344646085 |
1197 | I>V | No |
ClinGen gnomAD |
|
|
CA351917662 rs1291571159 |
1198 | S>G | No |
ClinGen gnomAD |
|
|
rs781413069 CA2291377 |
1198 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351917642 rs1355011227 |
1199 | F>S | No |
ClinGen gnomAD |
|
|
rs754600706 CA2291376 |
1201 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA351917607 rs1166100722 |
1202 | E>K | No |
ClinGen TOPMed |
|
|
rs1559605319 CA351917584 |
1203 | P>R | No |
ClinGen Ensembl |
|
|
CA351917581 rs1464157703 |
1204 | R>G | No |
ClinGen gnomAD |
|
|
rs1431474629 CA351917578 |
1204 | R>T | No |
ClinGen gnomAD |
|
|
CA351917545 rs1200429288 |
1206 | K>E | No |
ClinGen gnomAD |
|
|
CA351917522 rs1265791180 |
1207 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA2291375 rs751269332 |
1207 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs200768562 CA351917516 |
1208 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1043442 CA2291374 COSM2150350 rs200768562 |
1208 | V>M | Variant assessed as Somatic; 4.638e-05 impact. central_nervous_system endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA71715135 rs918246796 |
1209 | D>V | No |
ClinGen TOPMed |
|
|
rs1234136051 CA351917484 |
1210 | A>G | No |
ClinGen TOPMed |
|
|
CA2291371 rs765169476 |
1212 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA2291368 rs768397674 |
1214 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs150493940 CA2291367 |
1215 | L>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs901250845 CA71715087 |
1215 | L>W | No |
ClinGen TOPMed gnomAD |
No associated diseases with Q9Y6M7
3 regional properties for Q9Y6M7
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Bicarbonate transporter-like, transmembrane domain | 580 - 1088 | IPR011531 |
| domain | Band 3 cytoplasmic domain | 141 - 261 | IPR013769-1 |
| domain | Band 3 cytoplasmic domain | 387 - 531 | IPR013769-2 |
Functions
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| apical plasma membrane | The region of the plasma membrane located at the apical end of the cell. |
| basolateral plasma membrane | The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| stereocilium | An actin-based protrusion from the apical surface of auditory and vestibular hair cells and of neuromast cells. These protrusions are supported by a bundle of cross-linked actin filaments (an actin cable), oriented such that the plus (barbed) ends are at the tip of the protrusion, capped by a tip complex which bridges to the plasma. Bundles of stereocilia act as mechanosensory organelles. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| sodium:bicarbonate symporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: Na+(out) + HCO3-(out) = Na+(in) + HCO3-(in). |
| solute:inorganic anion antiporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: inorganic anion(out) + solute(in) = inorganic anion (in) + solute(out). |
| transmembrane transporter activity | Enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| auditory receptor cell development | The process whose specific outcome is the progression of an auditory receptor cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate. |
| bicarbonate transport | The directed movement of bicarbonate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| ion homeostasis | Any process involved in the maintenance of an internal steady state of ions within an organism or cell. |
| regulation of intracellular pH | Any process that modulates the internal pH of a cell, measured by the concentration of the hydrogen ion. |
| transmembrane transport | The process in which a solute is transported across a lipid bilayer, from one side of a membrane to the other. |
24 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9GL77 | SLC4A4 | Electrogenic sodium bicarbonate cotransporter 1 | Bos taurus (Bovine) | PR |
| Q32LP4 | SLC4A10 | Sodium-driven chloride bicarbonate exchanger | Bos taurus (Bovine) | PR |
| Q8NBS3 | SLC4A11 | Solute carrier family 4 member 11 | Homo sapiens (Human) | PR |
| Q9Y6R1 | SLC4A4 | Electrogenic sodium bicarbonate cotransporter 1 | Homo sapiens (Human) | PR |
| Q6U841 | SLC4A10 | Sodium-driven chloride bicarbonate exchanger | Homo sapiens (Human) | PR |
| Q2Y0W8 | SLC4A8 | Electroneutral sodium bicarbonate exchanger 1 | Homo sapiens (Human) | PR |
| P02730 | SLC4A1 | Band 3 anion transport protein | Homo sapiens (Human) | PR |
| P04920 | SLC4A2 | Anion exchange protein 2 | Homo sapiens (Human) | PR |
| P04919 | Slc4a1 | Band 3 anion transport protein | Mus musculus (Mouse) | PR |
| Q8JZR6 | Slc4a8 | Electroneutral sodium bicarbonate exchanger 1 | Mus musculus (Mouse) | PR |
| P13808 | Slc4a2 | Anion exchange protein 2 | Mus musculus (Mouse) | PR |
| A2AJN7 | Slc4a11 | Solute carrier family 4 member 11 | Mus musculus (Mouse) | PR |
| Q5DTL9 | Slc4a10 | Sodium-driven chloride bicarbonate exchanger | Mus musculus (Mouse) | PR |
| P16283 | Slc4a3 | Anion exchange protein 3 | Mus musculus (Mouse) | PR |
| O88343 | Slc4a4 | Electrogenic sodium bicarbonate cotransporter 1 | Mus musculus (Mouse) | PR |
| Q8BTY2 | Slc4a7 | Sodium bicarbonate cotransporter 3 | Mus musculus (Mouse) | PR |
| Q4U116 | SLC4A4 | Electrogenic sodium bicarbonate cotransporter 1 | Sus scrofa (Pig) | PR |
| Q9JI66 | Slc4a4 | Electrogenic sodium bicarbonate cotransporter 1 | Rattus norvegicus (Rat) | PR |
| Q80ZA5 | Slc4a10 | Sodium-driven chloride bicarbonate exchanger | Rattus norvegicus (Rat) | PR |
| Q9R1N3 | Slc4a7 | Sodium bicarbonate cotransporter 3 | Rattus norvegicus (Rat) | PR |
| Q3E954 | BOR6 | Probable boron transporter 6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9M1P7 | BOR2 | Probable boron transporter 2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SUU1 | BOR7 | Probable boron transporter 7 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8VYR7 | BOR1 | Boron transporter 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MERFRLEKKL | PGPDEEAVVD | LGKTSSTVNT | KFEKEELESH | RAVYIGVHVP | FSKESRRRHR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| HRGHKHHHRR | RKDKESDKED | GRESPSYDTP | SQRVQFILGT | EDDDEEHIPH | DLFTEMDELC |
| 130 | 140 | 150 | 160 | 170 | 180 |
| YRDGEEYEWK | ETARWLKFEE | DVEDGGDRWS | KPYVATLSLH | SLFELRSCIL | NGTVMLDMRA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| STLDEIADMV | LDNMIASGQL | DESIRENVRE | ALLKRHHHQN | EKRFTSRIPL | VRSFADIGKK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| HSDPHLLERN | GEGLSASRHS | LRTGLSASNL | SLRGESPLSL | LLGHLLPSSR | AGTPAGSRCT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TPVPTPQNSP | PSSPSISRLT | SRSSQESQRQ | APELLVSPAS | DDIPTVVIHP | PEEDLEAALK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GEEQKNEENV | DLTPGILASP | QSAPGNLDNS | KSGEIKGNGS | GGSRENSTVD | FSKVDMNFMR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KIPTGAEASN | VLVGEVDFLE | RPIIAFVRLA | PAVLLTGLTE | VPVPTRFLFL | LLGPAGKAPQ |
| 490 | 500 | 510 | 520 | 530 | 540 |
| YHEIGRSIAT | LMTDEIFHDV | AYKAKDRNDL | LSGIDEFLDQ | VTVLPPGEWD | PSIRIEPPKS |
| 550 | 560 | 570 | 580 | 590 | 600 |
| VPSQEKRKIP | VFHNGSTPTL | GETPKEAAHH | AGPELQRTGR | LFGGLILDIK | RKAPFFLSDF |
| 610 | 620 | 630 | 640 | 650 | 660 |
| KDALSLQCLA | SILFLYCACM | SPVITFGGLL | GEATEGRISA | IESLFGASLT | GIAYSLFAGQ |
| 670 | 680 | 690 | 700 | 710 | 720 |
| PLTILGSTGP | VLVFEKILYK | FCRDYQLSYL | SLRTSIGLWT | SFLCIVLVAT | DASSLVCYIT |
| 730 | 740 | 750 | 760 | 770 | 780 |
| RFTEEAFAAL | ICIIFIYEAL | EKLFDLGETY | AFNMHNNLDK | LTSYSCVCTE | PPNPSNETLA |
| 790 | 800 | 810 | 820 | 830 | 840 |
| QWKKDNITAH | NISWRNLTVS | ECKKLRGVFL | GSACGHHGPY | IPDVLFWCVI | LFFTTFFLSS |
| 850 | 860 | 870 | 880 | 890 | 900 |
| FLKQFKTKRY | FPTKVRSTIS | DFAVFLTIVI | MVTIDYLVGV | PSPKLHVPEK | FEPTHPERGW |
| 910 | 920 | 930 | 940 | 950 | 960 |
| IISPLGDNPW | WTLLIAAIPA | LLCTILIFMD | QQITAVIINR | KEHKLKKGAG | YHLDLLMVGV |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| MLGVCSVMGL | PWFVAATVLS | ISHVNSLKVE | SECSAPGEQP | KFLGIREQRV | TGLMIFILMG |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| LSVFMTSVLK | FIPMPVLYGV | FLYMGVSSLK | GIQLFDRIKL | FGMPAKHQPD | LIYLRYVPLW |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| KVHIFTVIQL | TCLVLLWVIK | VSAAAVVFPM | MVLALVFVRK | LMDLCFTKRE | LSWLDDLMPE |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| SKKKKEDDKK | KKEKEEAERM | LQDDDDTVHL | PFEGGSLLQI | PVKALKYSPD | KPVSVKISFE |
| 1210 | |||||
| DEPRKKYVDA | ETSL |